Renal Cystinuria and Immune Cells (T Lymphocytes) Dysfunction: What We Know about?

INTRODUCTION

Cystinuria (CYS) is the most common monogenic kidney stone disease.

METHODS

Starting from an unusual case of CYS associated to primary sclerosing cholangitis, inflammatory bowel disease (IBD), and autoimmune hepatitis in a young male, we carefully review the literature and propose here a working hypothesis regarding the potential risk of cystinuric patients to develop conditions due to immune system dysregulation. To corroborate this hypothesis, we retrospectively evaluate the frequency of dysimmunity in a monocentric cohort including 36 cystinuric patients compared to healthy and disease controls.

RESULTS

CYS patients have an increased prevalence of atopic disease compared to disease controls (p = 0.03) and 16.7% of CYS subjects were diagnosed with allergic disease to a variety of antigens.

CONCLUSION

Further studies are needed to define the relationship between proximal tubular transport defect of CYS and dysregulated immunity.